# congenital bile acid synthesis defect 3

> congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has material basis in homozygous mutation in the CYP7B1 gene on chromosome 8q12

**Wikidata**: [Q42863603](https://www.wikidata.org/wiki/Q42863603)  
**Source**: https://4ort.xyz/entity/congenital-bile-acid-synthesis-defect-3


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000172817/Orphanet_79302)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023